Talk:Renal System - Abnormalities
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Cite this page: Hill, M.A. (2024, April 20) Embryology Renal System - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Renal_System_-_Abnormalities |
2015
Urothelial Defects from Targeted Inactivation of Exocyst Sec10 in Mice Cause Ureteropelvic Junction Obstructions
PLoS One. 2015 Jun 5;10(6):e0129346. doi: 10.1371/journal.pone.0129346.
Fogelgren B1, Polgar N1, Lui VH1, Lee AJ1, Tamashiro KK1, Napoli JA1, Walton CB2, Zuo X3, Lipschutz JH4.
Abstract
Most cases of congenital obstructive nephropathy are the result of ureteropelvic junction obstructions, and despite their high prevalence, we have a poor understanding of their etiology and scarcity of genetic models. The eight-protein exocyst complex regulates polarized exocytosis of intracellular vesicles in a large variety of cell types. Here we report generation of a conditional knockout mouse for Sec10, a central component of the exocyst, which is the first conditional allele for any exocyst gene. Inactivation of Sec10 in ureteric bud-derived cells using Ksp1.3-Cre mice resulted in severe bilateral hydronephrosis and complete anuria in newborns, with death occurring 6-14 hours after birth. Sec10FL/FL;Ksp-Cre embryos developed ureteropelvic junction obstructions between E17.5 and E18.5 as a result of degeneration of the urothelium and subsequent overgrowth by surrounding mesenchymal cells. The urothelial cell layer that lines the urinary tract must maintain a hydrophobic luminal barrier again urine while remaining highly stretchable. This barrier is largely established by production of uroplakin proteins that are transported to the apical surface to establish large plaques. By E16.5, Sec10FL/FL;Ksp-Cre ureter and pelvic urothelium showed decreased uroplakin-3 protein at the luminal surface, and complete absence of uroplakin-3 by E17.5. Affected urothelium at the UPJ showed irregular barriers that exposed the smooth muscle layer to urine, suggesting this may trigger the surrounding mesenchymal cells to overgrow the lumen. Findings from this novel mouse model show Sec10 is critical for the development of the urothelium in ureters, and provides experimental evidence that failure of this urothelial barrier may contribute to human congenital urinary tract obstructions.
PMID 26046524
http://www.plosone.org/article/related/info:doi/10.1371/journal.pone.0129346
The long-term management and outcomes of cloacal anomalies
Pediatr Nephrol. 2015 May;30(5):759-65. doi: 10.1007/s00467-014-2875-7. Epub 2014 Sep 13.
Fernando MA1, Creighton SM, Wood D.
Abstract
Cloacal anomalies occur when failure of the urogenital septum to separate the cloacal membrane results in the urethra, vagina, rectum and anus opening into a single common channel. The reported incidence is 1:50,000 live births. Short-term paediatric outcomes of surgery are well reported and survival into adulthood is now usual, but long-term outcome data are less comprehensive. Chronic renal failure is reported to occur in 50 % of patients with cloacal anomalies, and 26-72 % (dependant on the length of the common channel) of patients experience urinary incontinence in adult life. Defaecation is normal in 53 % of patients, with some managed by methods other than surgery, including medication, washouts, stoma and antegrade continent enema. Gynaecological anomalies are common and can necessitate reconstructive surgery at adolescence for menstrual obstruction. No data are currently available on sexual function and little on the quality of life. Pregnancy is extremely rare and highly risky. Patient care should be provided by a multidisciplinary team with experience in managing these and other related complex congenital malformations. However, there is an urgent need for a well-planned, collaborative multicentre prospective study on the urological, gastrointestinal and gynaecological aspects of this rare group of complex conditions.
PMID 25217327
2010
Bilateral intravesical ureterocele associated with unilateral partial duplication of the ureter and other anomalies: proposal of a new variant to the classification of ureterocles based on a perinatal autopsy, review of the literature and embryology
APMIS. 2010 Oct;118(10):809-14. doi: 10.1111/j.1600-0463.2010.02666.x. Epub 2010 Aug 17.
Jaiman S, Ulhøj BP. Department of Pathology, Randers Regional Hospital, Randers NØ, Denmark. sunijaim@rm.dk Abstract The aims of this study were to demonstrate a case of bilateral intravesical ureterocele associated with megacystis and mega-ureters, unilateral partial duplication of the ureter and unilateral segmental renal dysplasia of the upper pole and an accessory spleen and to propose an addition of the new variant to the classification of ureteroceles. A perinatal necropsy was conducted on the 21-week fetus by employing the Rokitansky procedure with evisceration performed in blocks. The autopsy revealed the aforementioned abnormalities without cardiac or neural anomalies. The amniocentesis report was normal. Ureterocele is a saccular expansion of the distal ureter. It is most commonly observed in females and children and usually affects the upper moiety of a complete pyeloureteral duplication. Four types of ureteroceles are described: (A) ureterocele with single ureter (10%); (B) ureterocele with total duplication and intravesical development (10%); (C) ureterocele with total duplication and extravesical development (62%); and (D) ureterocele with ectopic ureter (3%). One case in a new born with bilateral intravesical ureterocele associated with hydrouretero-nephrosis and hyperechogenic spots in kidneys has been reported, but bilateral intravesical ureterocele with unilateral incomplete pyeloureteral duplication has never been described in the literature. © 2010 The Authors. Journal Compilation © 2010 APMIS.
PMID: 20854476
2009
Increased prevalence of renal and urinary tract anomalies in children with Down syndrome
Pediatrics. 2009 Oct;124(4):e615-21. Epub 2009 Sep 14.
Kupferman JC, Druschel CM, Kupchik GS. Source Divisions of Pediatric Nephrology and Hypertension, Maimonides Infants and Children's Hospital, Brooklyn, New York 11219, USA. jkupferman@maimonidesmed.org Abstract OBJECTIVE: The goal was to investigate the prevalence of renal and urinary tract anomalies (RUTAs) in a Down syndrome (DS) population.
METHODS: Data were obtained from the New York State Congenital Malformation Registry (NYS-CMR) in this retrospective cohort study. The occurrence of RUTAs was assessed for children with and without DS who were born in NYS between 1992 and 2004. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated for each malformation.
RESULTS: Between 1992 and 2004, 3832 children with DS and 3 411 833 without DS were born in NYS. The prevalence of RUTAs in the DS population was 3.2%, compared with 0.7% in the NYS population (OR: 4.5 [95% CI: 3.8 -5.4]). Children with DS had significantly increased risks of anterior urethral obstruction (OR: 29.7 [95% CI: 4.0 -217.7]), cystic dysplastic kidney (OR: 4.5 [95% CI: 1.5-14.1]), hydronephrosis (OR: 8.7 [95% CI: 6.8 -11.0]), hydroureter (OR: 8.5 [95% CI: 3.5-20.4]), hypospadias (OR: 2.0 [95% CI: 1.4 -2.9]), posterior urethral valves (OR: 7.1 [95% CI: 1.8 -28.8]), prune belly syndrome (OR: 11.9 [95% CI: 1.6 - 85.4]), and renal agenesis (OR: 5.4 [95% CI: 2.8 -10.4]). There was no significantly increased risk of ectopic kidney (OR: 1.6 [95% CI: 0.2-11.2]) or ureteropelvic junction obstruction (OR: 1.4 [95% CI: 0.2-9.9]) in the DS population.
CONCLUSION: Children with DS have significantly increased risks of RUTAs.
PMID: 19752083 http://www.ncbi.nlm.nih.gov/pubmed/19752083
Bardet-Biedl syndrome, renal transplant and percutaneous nephrolithotomy: a case report and review of the literature
Cases J. 2009 Jul 7;2:6771.
Middela S, Polizois K, Bradley AJ, Rao PN. Source Department of Urology, University Hospital of South Manchester Foundation NHS trust, Wythenshawe Hospital Southmoor Road, Manchester, M13 0DP UK. seshi@gmx.com
Abstract
Bardet-Biedl syndrome is an autosomal recessive disorder with obesity, polydactly, retinitis pigmentosa, hypogenitalism, intellectual impairment and varying degree of renal abnormalities. Fewer than ten cases of paediatric renal transplantation for BBS have been reported in literature so far. This is the only case report of BBS transplant urolithiasis which was dealt with percutaneous nephrolithotomy and has been stone free for seven years. This is a complex case with a rare genetic disorder, renal transplant, renal stone, ileal conduit, long loop and inversely placed kidney. This case exemplifies the need for multidisciplinary management of complex cases and emphasises PCNL as the safe method.
PMID: 19829857
2007
Ambulatory blood pressure monitoring and renal functions in children with a solitary kidney
Pediatr Nephrol. 2007 Apr;22(4):559-64. Epub 2007 Jan 10.
Dursun H, Bayazit AK, Cengiz N, Seydaoglu G, Buyukcelik M, Soran M, Noyan A, Anarat A. Source Department of Pediatric Nephrology, Cukurova University School of Medicine, 01330 Balcali, Adana, Turkey. dursunhs@yahoo.com
Abstract
The aim of this study is to investigate the blood pressure (BP) profile, microalbuminuria, renal functions, and relations with remaining normal kidney size in children with unilateral functioning solitary kidney (UFSK). Sixty-six children with UFSK were equally divided into three groups: unilateral renal agenesis (URA), unilateral atrophic kidney (UAK), and unilateral nephrectomy (UNP). Twenty-two age-, weight-, and height-matched healthy children were considered as a control group. The serum creatinine level and first-morning urine microalbumin and creatinine concentrations were determined by the standard methods. Also, the BP profile was determined by ambulatory blood pressure monitoring (ABPM). We found that the serum creatinine level was higher and creatinine clearance was lower in each patient groups compared to those of the control group (p < 0.05). Compared with the controls, each group of patients had mean office, 24-h, daytime, and night-time systolic and diastolic BP values similar to those of the controls (p > 0.05). An inverse correlation was found between the renal size standard deviation scores (SDS) of normal kidneys and 24-h systolic and diastolic BP load SDS in all of the patients (p < 0.05; r = -0.372, r = -0.295, respectively). The observed relationship between renal size SDS and 24-h mean arterial pressure (MAP), systolic and diastolic BP load SDS suggests that children with UFSK should be evaluated by using ABPM for the risk of hypertension.
PMID: 17216255 http://www.ncbi.nlm.nih.gov/pubmed/17216255
2006
Congenital Megacalyces
http://www.radpod.org/2006/12/27/congenital-megacalyces/
his 10-month old male had a large left kidney, thought to be due to tumour. A CT of the renal tracts was performed, which shows no tumour, but confirms enlargement of the left kidney. The image shown is a posterior view from a 3D reconstruction of the excretory phase of the examination (click image for frontal MIP, a virtual IVP). There are more than the usual number of calyces, and they have a bizarre polygonal, faceted shape. Congenital megacalyces are thought to be due to developmental hypoplasia of the medullary pyramids. The enlarged, floppy calyces predispose to statis, infection and calculus formation. There is an association with congenital megaureter.
- Renal ectopy
- Renal fusion
- asymptomatic renal ectopia
